Characterization of greater middle eastern genetic variation for enhanced disease gene discovery

The Greater Middle East (GME) has been a central hub of human migration and population admixture. The tradition of consanguinity, variably practiced in the Persian Gulf region, North Africa, and Central Asia1-3, has resulted in an elevated burden of recessive disease4. Here we generated a whole-exome GME variome from 1,111 unrelated subjects. We detected substantial diversity and admixture in continental and subregional populations, corresponding to several ancient founder populations with little evidence of bottlenecks. Measured consanguinity rates were an order of magnitude above those in other sampled populations, and the GME population exhibited an increased burden of runs of homozygosity (ROHs) but showed no evidence for reduced burden of deleterious variation due to classically theorized ‘genetic purging’. Applying this database to unsolved recessive conditions in the GME population reduced the number of potential disease-causing variants by four- to sevenfold. These results show variegated genetic architecture in GME populations and support future human genetic discoveries in Mendelian and population genetics

Vieillissement thermique et thermo-oxydant de composites carbone/époxy (relation entre les proprétés chimiques, physiques et mécaniques)

LE HAVRE-BU Centrale (763512101) / SudocSudocFranceF

Influence de la température sur le vieillissement d'un composite carbone/époxy

International audienc

Decoupling of water and oxygen diffusion phenomena in order to prove the occurrence of thermo-oxidation during hygrothermal aging of thermosetting resins for RTM composite applications

International audienceA novel experimental/numerical method is set up in order to decouple water and oxygen diffusion phenomena and to prove the occurrence of thermo-oxidation during hygrothermal aging of thermosetting resins for RTM composite applications. The method consists of creating artificial environmental conditions under pure water, pure oxygen and a water/oxygen mixture and in following the mass uptake of polymer samples during aging. Global and local (ultra-microindentation) mechanical properties of samples are then measured during and after aging, for each environmental conditioning. By analyzing the gravimetric curves with the aid of diffusion–reaction models and the results of mechanical tests, it is shown that water and oxygen diffusion phenomena are coupled in a complex way and that diffusion/reaction phenomena between water and oxygen take place during hygrothermal aging